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Term:selective pituitary thyroid hormone resistance
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Accession:DOID:0111374 term browser browse the term
Definition:A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2. (DO)
Synonyms:exact_synonym: PRTH;   familial hyperthyroidism due to inappropriate thyrotropin secretion;   pituitary resistance to thyroid hormone;   selective pituitary resistance to thyroid hormone
 primary_id: MESH:C564154
 alt_id: OMIM:145650
 xref: ORDO:165994
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selective pituitary thyroid hormone resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thrb thyroid hormone receptor beta JBrowse link 15 8,890,578 9,239,815 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      endocrine system disease 4837
        thyroid gland disease 319
          hyperthyroidism 92
            selective pituitary thyroid hormone resistance 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal dominant disease 2170
                selective pituitary thyroid hormone resistance 1
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